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Publications by Michal Berkenstadt

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Frontiers in Genetics

Molecular Medicine

English

LMOD3 -Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings

Journal of Ultrasound in Medicine

Nuclear Medicine

Ultrasound Technology

English

Related publications

Whole Exome Sequencing for Prenatal Diagnosis in Cases With Fetal Anomalies: Criteria to Improve Diagnostic Yield

Journal of Genetic Counseling

English

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting

American Journal of Ophthalmology

English

P05.10: Using Whole-Exome Sequencing in Prenatal Diagnosis of Severe Fetal Abnormalities

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English

A Semi-Automated Whole Exome Sequencing Workflow Leads to Increased Diagnostic Yield and Identification of Novel Candidate Variants

Cold Spring Harbor molecular case studies

Molecular Medicine

English

THU0005 Whole Genome Linkage and Exome Sequencing Analyses in Takayasu Arteritis Families

English

Identification of Candidate Gene Variants in Korean MODY Families by Whole-Exome Sequencing

Hormone Research in Paediatrics

English

Whole Exome Sequencing in Monogenic Dyslipidemias

Journal of Atherosclerosis and Thrombosis

Internal Medicine

Cardiovascular Medicine

English

Whole-Genome Sequencing Is More Powerful Than Whole-Exome Sequencing for Detecting Exome Variants

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Identification of CDH23 Mutations in Korean Families With Hearing Loss by Whole-Exome Sequencing

BMC Medical Genetics

English